Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107701858A>C , CM000669.2:g.107701858A>C | GRCh38 |
| NC_000007.13:g.107342303A>C , CM000669.1:g.107342303A>C | GRCh37 |
| NC_000007.12:g.107129539A>C | NCBI36 |
| NG_008489.1:g.46224A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644269.2:c.1835A>C MANE Select | ENSP00000494017.1:p.Asn612Thr | |
| ENST00000644846.1:c.546A>C | ||
| ENST00000265715.7:c.1835A>C | ENSP00000265715.3:p.Asn612Thr | |
| ENST00000480841.5:n.684A>C | ||
| ENST00000492030.2:n.122A>C | ||
| NM_000441.1:c.1835A>C | NP_000432.1:p.Asn612Thr | |
| XM_005250425.1:c.1835A>C | XP_005250482.1:p.Asn612Thr | |
| XM_005250425.2:c.1835A>C | XP_005250482.1:p.Asn612Thr | |
| XM_017012318.1:c.1757A>C | XP_016867807.1:p.Asn586Thr | |
| NM_000441.2:c.1835A>C MANE Select | NP_000432.1:p.Asn612Thr |